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US 2010/0062445 A1Published application
Chromosome 1p36 polymorphisms and low bone mineral density
AssigneeThe Nemours Foundation
InventorsMarcella Devoto, Katia Sol-Church, Loretta D. Spotila
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Abstract
The invention provides methods and compositions for diagnosing risk of low BMD and risk of osteoporosis based on the detection of SNP identity for human chromosome 1p36 polymorphisms designated in the NCBI SNP database (dbSNP) as rs2794328, rs446529, rs397559 and rs1802353.
Claims9
A method of diagnosing risk of low bone mineral density (BMD) in an individual, said method comprising:
- detecting the identity of at least one chromosome 1p36 polymorphism in a biological sample from an individual, wherein said at least one chromosome 1p36 polymorphism is selected from the group consisting of:
- a polymorphism at nucleotide 26 of SEQ ID NO:
- 3 (rs446529) or its corresponding minus strand,
- a polymorphism at nucleotide 26 of SEQ ID NO:
- 5 (rs397559) or its corresponding minus strand and
- a polymorphism at nucleotide 26 of SEQ ID NO:
- 7 (rs1802353) or its corresponding minus strand,
- wherein:
- the presence of “T” at nucleotide 26 of SEQ ID NO:
- 3 or the presence of “A” at nucleotide 26 of the corresponding minus strand of SEQ ID NO:
- 3,
- the presence of “C” at nucleotide 26 of SEQ ID NO:
- 5 or the presence of “G” at nucleotide 26 of the corresponding minus strand of SEQ ID NO:
- 5, or
- the presence of “A” at nucleotide 26 of SEQ ID NO:
- 7 or the presence of “T” at nucleotide 26 of the corresponding minus strand of SEQ ID NO:
- 7,
- is indicative of an elevated risk of low BMD in said individual.
15 more elements
A method of diagnosing risk of osteoporosis in an individual, said method comprising:
- detecting the identity of at least one chromosome 1p36 polymorphism in a biological sample from an individual, wherein said at least one chromosome 1p36 polymorphism is selected from the group consisting of:
- a polymorphism at nucleotide 26 of SEQ ID NO:
- 3 (rs446529) or its corresponding minus strand,
- a polymorphism at nucleotide 26 of SEQ ID NO:
- 5 (rs397559) or its corresponding minus strand and
- a polymorphism at nucleotide 26 of SEQ ID NO:
- 7 (rs1802353) or its corresponding minus strand,
- wherein:
- the presence of “T” at nucleotide 26 of SEQ ID NO:
- 3 or the presence of “A” at nucleotide 26 of the corresponding minus strand of SEQ ID NO:
- 3,
- the presence of “C” at nucleotide 26 of SEQ ID NO:
- 5 or the presence of “G” at nucleotide 26 of the corresponding minus strand of SEQ ID NO:
- 5, or
- the presence of “A” at nucleotide 26 of SEQ ID NO:
- 7 or the presence of “T” at nucleotide 26 of the corresponding minus strand of SEQ ID NO:
- 7,
- is indicative of an elevated risk of osteoporosis in said individual.
15 more elements
A kit for diagnosing risk of low bone mineral density (BMD), said kit comprising:
- at least one pair of amplification primers for forming an amplified double-stranded target polynucleotide, wherein said pair is designed to amplify a target polynucleotide sequence comprising a chromosome 1p36 polymorphism selected from the group consisting of a polymorphism at nucleotide 26 of SEQ ID NO:
- 1 (rs2794328), a polymorphism at nucleotide 26 of SEQ ID NO:
- 3 (rs446529), a polymorphism at nucleotide 26 of SEQ ID NO:
- 5 (rs397559) and a polymorphism at nucleotide 26 of SEQ ID NO:
- 7 (rs1802353),
- at least one detection probe, wherein said detection probe hybridizes to a sequence 3′ of said chromosome 1p36 polymorphism in either strand of said amplified double-stranded target polynucleotide, and
- an instructional material for performing said risk diagnosis.
4 more elements
Dependencies are inferred from the claim text.